Version: 8.0.0
Date: Tue Jan 28 2025
lissencephaly 8
DOID:0112233
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

lissencephaly 8

Definition
A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32.
Synonyms
  • LIS8
Cross References
Parent Terms
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None
Sources of Associations

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